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TITLE: Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males
AUTHORS: Oliveira, JP ; Albina Nowak; Frederic Barbey; Marcia Torres; Jose P Nunes ; Fernando Teixeira e Costa; Fernanda Carvalho; Susana Sampaio ; Isabel Tavares ; Odete Pereira; Ana L Soares; Catia Carmona; Maria Teresa Cardoso; Iulia E Jurca Simina; Marco Spada; Susana Ferreira ; Dominique P Germain;
PUBLISHED: 2020, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 63, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 19
2
TITLE: Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document  Full Text
AUTHORS: Marieke Biegstraaten; Reynir Arngrimsson; Frederic Barbey; Lut Boks; Franco Cecchi; Patrick B Deegan; Ulla Feldt Rasmussen; Tarekegn Geberhiwot; Dominique P Germain; Chris Hendriksz; Derralynn A Hughes; Ilkka Kantola; Nesrin Karabul; Christine Lavery; Gabor E Linthorst; Atul Mehta; Erica van de Mheen; Oliveira, JP ; Rossella Parini; Uma Ramaswami; Michael Rudnicki; Andreas Serra; Claudia Sommer; Gere Sunder Plassmann; Einar Svarstad; Annelies Sweeb; Wim Terryn; Anna Tylki Szymanska; Camilla Tondel; Bojan Vujkovac; Frank Weidemann; Frits A Wijburg; Peter Woolfson; Carla E M Hollak; ...More
PUBLISHED: 2015, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 10, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 234
3
TITLE: Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN)
AUTHORS: Agnes B Fogo; Leif Bostad; Einar Svarstad; William J Cook; Solange Moll; Federic Barbey; Laurette Geldenhuys; Michael West; Dusan Ferluga; Bojan Vujkovac; Alexander J Howie; Aine Burns; Roy Reeve; Stephen Waldek; Laure Helene Noel; Jean Pierre Gruenfeld; Carmen Valbuena ; Oliveira, JP ; Justus Mueller; Frank Breunig; Xiao A Zhang; David G Warnock; ...More
PUBLISHED: 2010, SOURCE: NEPHROLOGY DIALYSIS TRANSPLANTATION, VOLUME: 25, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 121
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TITLE: SCORING SYSTEM FOR RENAL PATHOLOGY IN FABRY DISEASE: REPORT OF THE INTERNATIONAL STUDY GROUP OF FABRY NEPHROPATHY (ISGFN)
AUTHORS: Oliveira, JP ; Agnes B Fogo; Leif Bostad; Einar Svarstad; William J Cook; Solange Moll; Federic Barbey; Laurette Geldenhuys; Michael West; Dusan Ferluga; Bojan Vujkovac; Alexander J Howie; Aine Burns; Roy Reeve; Stephen Waldek; Laure Helene Noel; Jean Pierre Gruenfeld; Carmen Valbuena ; Justus Mueller; Frank Breunig; Xiao A Zhang; David G Warnock; ...More
PUBLISHED: 2010, SOURCE: 10th Annual European Round Table on Fabry Disease in CLINICAL THERAPEUTICS, VOLUME: 32
INDEXED IN: WOS